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MIRAGE
hereditary sensory and autonomic neuropathy type 7
Summary
- Synonym
-
- HSAN7
- hereditary sensory and autonomic neuropathy type VII
- Definition
- A hereditary sensory neuropathy characterized by insensitivity to pain, mild muscle weakness, delayed motor development, hyperhidrosis and gastrointestinal dysfunction that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22.
- Super Class
- autosomal dominant disease hereditary sensory neuropathy
External Links
- Disease Ontology
- DOID:0070149
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UI33 | Sodium channel protein type 11 subunit alpha |
